Details for Combination OLI664

VARIANTS FIG4:c.1078C>T, p.His360Tyr in Heterozygous form; SETX:c.472T>G, p.Leu158Val in Heterozygous form
GENE COMBINATION FIG4; SETX
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 608031; 105400; 615515; 606640; 612069; 614808; 612577; 300857; 613435; 611895; 614696; 608030; 606070; 616437; 616208; 608627; 617892; 615426; 613954; 617839; 205250
DISEASES Amyotrophic lateral sclerosis
REFERENCES 29525178
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.